Variant Details for DAB2
Basic Information Top
| Gene Symbol: | DAB2 ( DOC-2,DOC2,FLJ26626 ) |
|---|---|
| Gene Full Name: | disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) |
| Band: | 5p13.1 |
| Quick Links | Entrez ID:1601; OMIM: 601236; Uniprot ID:DAB2_HUMAN; ENSEMBL ID: ENSG00000153071; HGNC ID: 2662 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 1 | 2 | 0 | 0 | 0 | 4 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000070 | 5 | 5p13.1 | 39412843 | 39434143 | 21300 | gain | external link | Szatmari, 2007 |
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 5 | 39376856 | G | C | c.2033C>G | p.Thr678Ser | Sanger sequencing | neutral | 0.0563 | Neale BM, 2012 |
| 5 | 39376856 | G | C | Sanger sequencing | neutral | 0.0563 | De Rubeis S, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000057 | 5p13.1 | 5 | D5S2494 | 2.55 | - | - | Liu, 2001 |
| AutLD0000013 | 5p13.1 | 5 | D5S2494 | 2.54 | - | - | Yonan, 2003 |
| AutLD0000087 | 5p13.1 | 5 | D5S2494 | - | 2.18 | - | Buxbaum, 2004 |
| AutLD0000106 | 5p13.1 | 5 | D5S1490 | - | 1.82 | - | Ylisaukko-oja, 2006 |